Variant report

Variant	rs11857947
Chromosome Location	chr15:78421669-78421670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr15:78421632-78421718	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78370032..78372893-chr15:78419584..78422013,2	K562	blood:
2	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
3	chr15:78370032..78372147-chr15:78419763..78422013,2	K562	blood:

Variant related genes	Relation type
IDH3A	TF binding region
ENSG00000183476	Chromatin interaction
ENSG00000167202	Chromatin interaction
ENSG00000166411	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1542101	0.89[CHB][hapmap];0.94[CHD][hapmap];0.87[ASN][1000 genomes]
rs16969520	1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2007540	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs2289524	0.85[CEU][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs3784327	0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.90[ASN][1000 genomes]
rs3784331	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs6495274	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8040395	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9783722	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11857947	CIB2	cis	lymphoblastoid	seeQTL
rs11857947	CIB2	cis	multi-tissue	Pritchard

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78396200-78421800	Weak transcription	Right Ventricle	heart
2	chr15:78396600-78423800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:78398400-78423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:78400000-78422400	Weak transcription	Brain Germinal Matrix	brain
5	chr15:78406000-78423000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr15:78406400-78423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr15:78409000-78423000	Weak transcription	Brain Anterior Caudate	brain
8	chr15:78413800-78422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:78413800-78422600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:78415200-78423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:78417200-78423200	Weak transcription	Adipose Nuclei	Adipose
12	chr15:78417400-78422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:78417800-78423000	Weak transcription	Fetal Stomach	stomach
14	chr15:78419600-78422400	Enhancers	A549	lung
15	chr15:78420000-78421800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:78420600-78421800	Weak transcription	Pancreas	Pancrea
17	chr15:78420600-78421800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:78420600-78423000	Weak transcription	Stomach Mucosa	stomach
19	chr15:78420800-78421800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr15:78420800-78422000	Weak transcription	Colonic Mucosa	Colon
21	chr15:78420800-78422000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:78421000-78423000	Enhancers	K562	blood
23	chr15:78421200-78422000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr15:78421200-78422000	Enhancers	Left Ventricle	heart
25	chr15:78421200-78422200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr15:78421200-78422800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr15:78421200-78422800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr15:78421200-78422800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:78421200-78422800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:78421200-78423000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:78421200-78423000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:78421200-78423200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:78421200-78423200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr15:78421200-78423400	Flanking Active TSS	Fetal Thymus	thymus
35	chr15:78421400-78421800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr15:78421400-78421800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:78421400-78421800	Flanking Active TSS	Hela-S3	cervix
38	chr15:78421400-78422000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:78421400-78422000	Enhancers	Psoas Muscle	Psoas
40	chr15:78421400-78422000	Enhancers	Thymus	Thymus
41	chr15:78421400-78422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr15:78421400-78422400	Enhancers	Fetal Brain Female	brain
43	chr15:78421400-78422400	Enhancers	Right Atrium	heart
44	chr15:78421400-78422600	Enhancers	Duodenum Mucosa	Duodenum
45	chr15:78421400-78423000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:78421400-78423000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:78421400-78423200	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr15:78421400-78423200	Enhancers	Fetal Muscle Trunk	muscle
49	chr15:78421400-78423200	Enhancers	Fetal Muscle Leg	muscle
50	chr15:78421400-78423400	Weak transcription	Esophagus	oesophagus

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